|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dravet syndrome: patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects.
|
21906962 |
2012 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SCN1A mutations result in a spectrum of severity ranging from mild febrile seizures to Dravet syndrome, an infant-onset epileptic encephalopathy.
|
27768696 |
2016 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Epilepsies linked to SCN1A mutations range from a relatively benign syndrome called generalized epilepsy with febrile seizures plus to severe childhood epilepsies such as severe myoclonic epilepsy of infancy (Dravet syndrome).
|
19666879 |
2009 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aim of this retrospective study was to describe the first large cohort of Japanese patients with SCN1A mutation-positive DS (n = 285), and investigate the relationship between variant (type and position) and clinical expression and response to treatment.
|
28012175 |
2017 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A role for SCN1A genetic mutations in the development of hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome was recently suggested based on the observation that HHE syndrome and classic Dravet syndrome share many clinical features.
|
23916143 |
2013 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, genetic analysis for Dravet syndrome showed the presence of heterozygous disease-causing mutation SCN1A NM_001165963.1:c.4494delC; NP_001159435.1:p.F1499Lfs*2.
|
25445412 |
2015 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Approximately 80% of patients with Dravet syndrome have been associated with heterozygous mutations in SCN1A gene encoding voltage-gated sodium channel (VGSC) α(I) subunit, whereas a homozygous mutation (p.Arg125Cys) of SCN1B gene encoding VGSC β(I) subunit was recently described in a patient with Dravet syndrome.
|
23148524 |
2012 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SCN1A gene causing either loss or gain of function have been frequently found in patients affected by genetic epilepsy with febrile seizures plus (GEFS+) or Dravet syndrome (also named severe myoclonic epilepsy in infancy SMEI).
|
28951233 |
2017 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, the authors present 4 novel mutations and confirm 2 previously identified mutations in the SCN1A gene found in a cohort of Turkish patients with Dravet syndrome.
|
20110217 |
2010 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dravet syndrome (DS) is an epileptic encephalopathy related mainly to mutations in the SCN1A gene, encoding for neuronal sodium channels.
|
21463281 |
2011 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dravet syndrome (DS) is an early onset refractory epilepsy typically caused by de novo heterozygous variants in SCN1A encoding the α-subunit of the neuronal sodium channel Na<sub>v</sub>1.1.
|
31445158 |
2019 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Abnormalities of the sodium channel gene SCN1A are found in 75% of DS patients.
|
22386634 |
2012 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Common variants in the sodium channel gene, SCN1A, are associated with febrile seizures, and rare pathogenic variants in SCN1A cause the severe developmental and epileptic encephalopathy Dravet syndrome.
|
31755124 |
2020 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The frequency of pathogenic variants was 4.17% in all the patients and 11.1% in DS patients, which, together with other publications, emphasize that specific and more severe phenotypes are associated with SCN1A mutations.
|
28525652 |
2017 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We conclude that bromide holds promise in patients with SCN1A-mutations suffering from Dravet syndrome.
|
22430156 |
2012 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Twenty-eight patients with early onset SMEI/DS before 6 months negative for SCN1A mutational screening were selected and screened for mutations in the ARX gene in males (n=14) or the CDKL5 gene in females (n=14).
|
19734009 |
2009 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mice with heterozygous deletion of Scn1a (Scn1a<sup>+/-</sup>) model many features of Dravet syndrome, including spontaneous seizures and premature lethality.
|
30347190 |
2019 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We expand the phenotypic spectrum of established epilepsy genes by reporting a familial LAMC3 homozygous variant, where the predominant phenotype was epilepsy with myoclonic-atonic seizures, and a pathogenic SCN1A variant in a family where in 5 siblings the phenotype was broadly consistent with Dravet syndrome, a disorder that usually occurs sporadically.
|
26802095 |
2016 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We present two children who exhibited the characteristics of Dravet syndrome during infancy and young childhood, with SCN1A mutation, but nevertheless achieved seizure freedom for at least four years during adolescence.
|
21865128 |
2011 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The treatment regimen of 12 children with Dravet syndrome and proven mutations in the alpha subunit of the sodium channel SCN1A is reported here.
|
15526956 |
2004 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Some of the rare genetic epilepsies enable treatment stratification through testing for the causal mutation, for example SCN1A mutations in patients with Dravet's syndrome.
|
25338670 |
2015 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the voltage-gated sodium channel SCN1A gene are responsible for the majority of Dravet syndrome cases.
|
24656210 |
2014 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SCN1A, the gene encoding voltage-gated sodium channel NaV1.1, cause a spectrum of epilepsy disorders that range from genetic epilepsy with febrile seizures plus to catastrophic disorders such as Dravet syndrome.
|
26843603 |
2016 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene.
|
29981888 |
2018 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our aim was the molecular analysis of SCN1A gene in affected Iranian patients with GEFS+ and Dravet syndrome diagnosed clinically to explain genotype-phenotype correlation and exact classification.
|
20682179 |
2010 |